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StoneRounds Disease Atlas SR645

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SR645

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Wolfram Syndrome (IIIC2a)

Female

Female

SR645

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Wolfram Syndrome (IIIC2a)

Female

Female

Visit at age: 18 years

Goldmann Visual Field - Right - 20/125 -1

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Goldmann Visual Field - Left - 20/125 -1

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Visit at age: 19 years

Fundus Photography - Right - 20/200 -1

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Fundus Photography - Left - 20/160 -1

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Fundus Montage - Right - 20/200 -1

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Fundus Montage - Left - 20/160 -1

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Optical Coherence Tomography - Right - 20/200 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -1

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Infrared Fundus Photograph - Left - 20/160 -1

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Visit at age: 19 years (Visit 2)

Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

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Infrared Fundus Photograph - Left - 20/200

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Visit at age: 20 years

Goldmann Visual Field - Right - 10/200

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Goldmann Visual Field - Left - 10/125

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Optical Coherence Tomography - Right - 10/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/125

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/200

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Infrared Fundus Photograph - Left - 10/125

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Visit at age: 21 years

Goldmann Visual Field - Right - 10/200

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Goldmann Visual Field - Left - 10/160

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Optical Coherence Tomography - Right - 10/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/160

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/200

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Infrared Fundus Photograph - Left - 10/160

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Visit at age: 22 years

Goldmann Visual Field - Right - 5/125

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Goldmann Visual Field - Left - 5/100

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Optical Coherence Tomography - Right - 5/125

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 5/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 5/125

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Infrared Fundus Photograph - Left - 5/100

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Visit at age: 23 years

Goldmann Visual Field - Right - 5/120

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Goldmann Visual Field - Left - 4/225

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Optical Coherence Tomography - Right - 5/120

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 4/225

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 5/120

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Infrared Fundus Photograph - Left - 4/225

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Visit at age: 25 years

Fundus Photography - Right - 10/600

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Fundus Photography - Left - 2/400

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Fundus Montage - Right - 10/600

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Fundus Montage - Left - 2/400

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Optical Coherence Tomography - Right - 10/600

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 2/400

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/600

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Infrared Fundus Photograph - Left - 2/400

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Visit at age: 26 years

Optical Coherence Tomography - Right - 5/300

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 3/300

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 5/300

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Infrared Fundus Photograph - Left - 3/300

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Wolfram Syndrome WFS1 Tyr291 ins1taC Trp613Stop TGG>TGA AR
Disease:
Wolfram Syndrome
Gene:
WFS1
Allele 1:
Tyr291 ins1taC
Allele 2:
Trp613Stop TGG>TGA
Inheritance:
AR
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